Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103425
Citations
1
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.81

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article

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

Murim Choi, Jennifer E. Posey, Candace Gamble, Carl Fratter et al.
1 citations
Genetics in Medicine Open
Mitochondrial Function and Pathology
0.81
article

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

Murim Choi, Jennifer E. Posey, Candace Gamble, Carl Fratter, Trevor L. Hoffman, Deepali N. Shinde, Holly Dubbs, Fernando Scaglia, Hudson H. Freeze, Victoria Nesbitt, Matthew Pastore, Wendy K. Chung, Bobby G. Ng, Zöe Powis, Joshua Rotenberg, Seema R. Lalani, Nicola Foulds, Austin Larson, Kristen Truxal, Eric W. Klee, Shamima Rahman, Donald Younkin, Jill Anne Rosenfeld, Rivka Sukenik‐Halevy, Eric D. Marsh, Betsy Schmalz, Chaya N. Murali, Tami Uster, Jong‐Hee Chae, Magalie Barth, Jorge L. Granadillo, Pilar Magoulas, Céline Bris, Erik A. Eklund, Timothy E. Lotze, Emily Magness, Joanna Poulton, Aya Abu‐El‐Haija, Volkan Okur, Jill V. Hunter, Abdallah F. Elias, Ralitza H. Gavrilova, Matheus Vernet Machado Bressan Wilke, H. Woo, Jianhua Zhao, David Chitayat, Jaclyn Haven, Debra M Bootin
article en
1 citations

Abstract

No abstract available for this paper.
Genetics in Medicine OpenVol. 3
Boston Children's Hospital (US), Centre National de la Recherche Scientifique (FR), Nationwide Children's Hospital (US), St. Louis Children's Hospital (US), Mayo Clinic (US), Children's Hospital of Philadelphia (US), Harvard University (US), Seoul National University (KR), Inserm (FR), Tel Aviv University (IL), Baylor College of Medicine (US), Lund University (SE), Discovery Institute (US), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), Hospital for Sick Children (CA), Meir Medical Center (IL), Seoul National University Hospital (KR), University Hospital Southampton NHS Foundation Trust (GB), Cook Children's Medical Center (US), Prince of Wales Hospital (CN), Mayo Clinic in Arizona (US), Women’s Health Care (US), Houston Fertility Institute (US), Wellcome Centre for Mitochondrial Research (GB), Woman’s Hospital of Texas (US), Kaiser Permanente Anaheim Medical Center (US), Oxford University Hospitals NHS Trust (GB), Texas Children's Hospital (US), Ambry Genetics (United States) (US), New York Genome Center (US), Shodair Children's Hospital (US), Chungbuk National University Hospital (KR), Baylor Genetics (US), University College London (GB), Université d'Angers (FR), Quest Diagnostics (United States) (US), University of Colorado Denver (US)
Kaiser Permanente, Children's Hospital of Philadelphia, Texas Children's Hospital, Nationwide Children's Hospital, University Hospital Southampton NHS Foundation Trust, Quest Diagnostics, University of Oxford, Institut National de la Santé et de la Recherche Médicale, Chungbuk National University, Seoul National University, Lunds Universitet, Great Ormond Street Hospital for Children, Seoul National University Hospital, Tel Aviv University, Centre National de la Recherche Scientifique, Hospital for Sick Children, Oxford University Hospitals NHS Foundation Trust, College of Medicine, Seoul National University, Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre, National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Child Health and Human Development, University of Colorado School of Medicine, Anschutz Medical Campus
Openalex Percentile: Top 30%
Mitochondrial Function and Pathology
0.81
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